Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil

Detalhes bibliográficos
Autor(a) principal: Fracasso, Nádia Carolina de Aguiar
Data de Publicação: 2017
Outros Autores: de Andrade, Edilene Santos, Wiezel, Cláudia Emília Vieira, Andrade, Claudia Caixeta Franco, Zanão, Lídia Renata, da Silva, Mateus Spinelli, Marano, Leonardo Arduino, Donadi, Eduardo Antônio, C. Castelli, Erick [UNESP], Simões, Aguinaldo Luiz, Mendes-Junior, Celso Teixeira
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1016/j.legalmed.2016.12.013
http://hdl.handle.net/11449/176974
Resumo: The Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes. At least two SLC45A2 coding SNPs [E272K (rs26722) and L374F (rs16891982)] were reported influencing normal variation of human pigmentation. Here we aimed at evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project. To achieve this goal, 12 SLC45A2 SNPs were evaluated in 288 unrelated individuals from the Ribeirão Preto city area, Southeastern Brazil. SNPs were genotyped by PCR-RFLP or Allele-specific PCR, followed by polyacrylamide gel electrophoresis. Haplotypes of each individual were inferred by two independent computational methods, PHASE and Partition-Ligation–Expectation-Maximization (PL-EM) algorithms, and 34 different haplotypes were identified. The hp9 haplotype was the most frequent (58.3%) and was associated with the presence of blond/red hair, pale skin, blue eyes and freckles. All haplotypes significantly associated with dark or light pigmentation features harbor the 374L and 374F alleles, respectively. These results emphasize the role played by haplotypes at SLC45A2 in the determination of pigmentation aspects of human populations and reinforce the relevance of SNP L374F in human pigmentation.
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spelling Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in BrazilBrazilHaplotypesPigmentationSLC45A2SNPsThe Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes. At least two SLC45A2 coding SNPs [E272K (rs26722) and L374F (rs16891982)] were reported influencing normal variation of human pigmentation. Here we aimed at evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project. To achieve this goal, 12 SLC45A2 SNPs were evaluated in 288 unrelated individuals from the Ribeirão Preto city area, Southeastern Brazil. SNPs were genotyped by PCR-RFLP or Allele-specific PCR, followed by polyacrylamide gel electrophoresis. Haplotypes of each individual were inferred by two independent computational methods, PHASE and Partition-Ligation–Expectation-Maximization (PL-EM) algorithms, and 34 different haplotypes were identified. The hp9 haplotype was the most frequent (58.3%) and was associated with the presence of blond/red hair, pale skin, blue eyes and freckles. All haplotypes significantly associated with dark or light pigmentation features harbor the 374L and 374F alleles, respectively. These results emphasize the role played by haplotypes at SLC45A2 in the determination of pigmentation aspects of human populations and reinforce the relevance of SNP L374F in human pigmentation.Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Departamento de Genética Faculdade de Medicina de Ribeirão Preto Universidade de São Paulo, 14049-900, Ribeirão Preto-SPDepartamento de Química Laboratório de Pesquisas Forenses e Genômicas Faculdade de Filosofia Ciências e Letras de Ribeirão Preto Universidade de São Paulo, 14040-901, Ribeirão Preto-SPDivisão de Imunologia Clínica Departamento de Clínica Médica Faculdade de Medicina de Ribeirão Preto Universidade de São Paulo, 14048-900, Ribeirão Preto-SPDepartamento de Patologia Faculdade de Medicina Unesp – Univ. Estadual PaulistaDepartamento de Patologia Faculdade de Medicina Unesp – Univ. Estadual PaulistaUniversidade de São Paulo (USP)Universidade Estadual Paulista (Unesp)Fracasso, Nádia Carolina de Aguiarde Andrade, Edilene SantosWiezel, Cláudia Emília VieiraAndrade, Claudia Caixeta FrancoZanão, Lídia Renatada Silva, Mateus SpinelliMarano, Leonardo ArduinoDonadi, Eduardo AntônioC. Castelli, Erick [UNESP]Simões, Aguinaldo LuizMendes-Junior, Celso Teixeira2018-12-11T17:23:20Z2018-12-11T17:23:20Z2017-03-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article43-51application/pdfhttp://dx.doi.org/10.1016/j.legalmed.2016.12.013Legal Medicine, v. 25, p. 43-51.1873-41621344-6223http://hdl.handle.net/11449/17697410.1016/j.legalmed.2016.12.0132-s2.0-850094659232-s2.0-85009465923.pdfScopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengLegal Medicine0,678info:eu-repo/semantics/openAccess2023-12-21T06:18:29Zoai:repositorio.unesp.br:11449/176974Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T20:51:31.298942Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil
title Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil
spellingShingle Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil
Fracasso, Nádia Carolina de Aguiar
Brazil
Haplotypes
Pigmentation
SLC45A2
SNPs
title_short Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil
title_full Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil
title_fullStr Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil
title_full_unstemmed Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil
title_sort Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil
author Fracasso, Nádia Carolina de Aguiar
author_facet Fracasso, Nádia Carolina de Aguiar
de Andrade, Edilene Santos
Wiezel, Cláudia Emília Vieira
Andrade, Claudia Caixeta Franco
Zanão, Lídia Renata
da Silva, Mateus Spinelli
Marano, Leonardo Arduino
Donadi, Eduardo Antônio
C. Castelli, Erick [UNESP]
Simões, Aguinaldo Luiz
Mendes-Junior, Celso Teixeira
author_role author
author2 de Andrade, Edilene Santos
Wiezel, Cláudia Emília Vieira
Andrade, Claudia Caixeta Franco
Zanão, Lídia Renata
da Silva, Mateus Spinelli
Marano, Leonardo Arduino
Donadi, Eduardo Antônio
C. Castelli, Erick [UNESP]
Simões, Aguinaldo Luiz
Mendes-Junior, Celso Teixeira
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade de São Paulo (USP)
Universidade Estadual Paulista (Unesp)
dc.contributor.author.fl_str_mv Fracasso, Nádia Carolina de Aguiar
de Andrade, Edilene Santos
Wiezel, Cláudia Emília Vieira
Andrade, Claudia Caixeta Franco
Zanão, Lídia Renata
da Silva, Mateus Spinelli
Marano, Leonardo Arduino
Donadi, Eduardo Antônio
C. Castelli, Erick [UNESP]
Simões, Aguinaldo Luiz
Mendes-Junior, Celso Teixeira
dc.subject.por.fl_str_mv Brazil
Haplotypes
Pigmentation
SLC45A2
SNPs
topic Brazil
Haplotypes
Pigmentation
SLC45A2
SNPs
description The Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes. At least two SLC45A2 coding SNPs [E272K (rs26722) and L374F (rs16891982)] were reported influencing normal variation of human pigmentation. Here we aimed at evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project. To achieve this goal, 12 SLC45A2 SNPs were evaluated in 288 unrelated individuals from the Ribeirão Preto city area, Southeastern Brazil. SNPs were genotyped by PCR-RFLP or Allele-specific PCR, followed by polyacrylamide gel electrophoresis. Haplotypes of each individual were inferred by two independent computational methods, PHASE and Partition-Ligation–Expectation-Maximization (PL-EM) algorithms, and 34 different haplotypes were identified. The hp9 haplotype was the most frequent (58.3%) and was associated with the presence of blond/red hair, pale skin, blue eyes and freckles. All haplotypes significantly associated with dark or light pigmentation features harbor the 374L and 374F alleles, respectively. These results emphasize the role played by haplotypes at SLC45A2 in the determination of pigmentation aspects of human populations and reinforce the relevance of SNP L374F in human pigmentation.
publishDate 2017
dc.date.none.fl_str_mv 2017-03-01
2018-12-11T17:23:20Z
2018-12-11T17:23:20Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1016/j.legalmed.2016.12.013
Legal Medicine, v. 25, p. 43-51.
1873-4162
1344-6223
http://hdl.handle.net/11449/176974
10.1016/j.legalmed.2016.12.013
2-s2.0-85009465923
2-s2.0-85009465923.pdf
url http://dx.doi.org/10.1016/j.legalmed.2016.12.013
http://hdl.handle.net/11449/176974
identifier_str_mv Legal Medicine, v. 25, p. 43-51.
1873-4162
1344-6223
10.1016/j.legalmed.2016.12.013
2-s2.0-85009465923
2-s2.0-85009465923.pdf
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Legal Medicine
0,678
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 43-51
application/pdf
dc.source.none.fl_str_mv Scopus
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
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